Abernethy syndrome in Slovenian children: Five case reports and review of literature

Table 1 Patients' clinical features, management and outcome

Case/gender	Type of shunt	Age at diagnosis	Associated congenital anomalies	Main clinical features at presentation	Additional clinical features and development of complications	Management	Outcome
1/M	Intrahepatic	8 yr	Congenital vascular malformation of the left shoulder	Diffuse abdominal pain and gastrointestinal haemorrhage	Signs of increased blood flow through pulmonary circulation, prominent gastric submucosal vasculature	Percutaneous closure of the shunt with Amplatzer plug	Age 13 yr: No shunt present, no signs and symptoms
2/M	Intrahepatic	< 1 mo	Duodenal membrane	Direct hyperbilirubinemia, increased liver enzymes	None	Conservative treatment with close follow-up	Age 8 mo: Spontaneous shunt regression, no signs or symptoms
3/M	Extrahepatic (1A)	22 mo	None	Pulmonary arterial hypertension, hyperammonemia	Worsening of pulmonary hypertension, basal ganglia hyperintensity on brain MRI	Liver transplantation at five years of age	Age 14 yr: Persistent pulmonary arterial hypertension
4/M	Extrahepatic (1A)	< 1 mo	Klippel–Trénaunay syndrome	Hyperbilirubinemia, hyperammonemia, hypovitaminosis	Osteoporosis, hypoglycemic episodes, regenerative liver nodules	Conservative treatment with close follow-up	Age 9 yr: Shunt present, no further complications
5/F	Extrahepatic (1B)	14 yr	ASD type secundum	Bone fractures from severe osteoporosis	Focal nodular hyperplasia, basal ganglia hyperintensity on brain MRI	Conservative treatment with close follow-up	Age 18 yr: Shunt present, no further complications, stable hepatic lesions

MRI: Magnetic resonance imaging; ASD: Atrial septal defect.